|
1
|
Al-Achkar W, Wafa A, Liehr T, Klein E and
Moassass F: Detailed analysis of an idic(Y)(q11.21) in a mosaic
karyotype. Mol Med Rep. 6:293–296. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Li Z, Haines CJ and Han Y:
‘Micro-deletions’ of the human Y chromosome and their relationship
with male infertility. J Genet Genomics. 35:193–199. 2008.
View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Kuroda-Kawaguchi T, Skaletsky H, Brown LG,
Minx PJ, Cordum HS, Waterston RH, Wilson RK, Silber S, Oates R,
Rozen S and Page DC: The AZFc region of the Y chromosome features
massive palindromes and uniform recurrent deletions in infertile
men. Nat Genet. 29:279–286. 2001. View
Article : Google Scholar : PubMed/NCBI
|
|
4
|
Repping S, Skaletsky H, Lange J, Silber S,
Van Der Veen F, Oates RD, Page DC and Rozen S: Recombination
between palindromes P5 and P1 on the human Y chromosome causes
massive deletions and spermatogenicfailure. Am J Hum Genet.
71:906–922. 2002. View
Article : Google Scholar : PubMed/NCBI
|
|
5
|
Vogt PH, Edelmann A, Kirsch S, Henegariu
O, Hirschmann P, Kiesewetter F, Köhn FM, Schill WB, Farah S, Ramos
C, et al: Human Y chromosome azoospermia factors(AZF) mapped to
different subregions in Yq11. Hum Mol Genet. 5:933–943. 1996.
View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Hsu LY: Phenotype/karyotype correlations
of Y chromosome aneuploidy with emphasis on structural aberrations
in postnatally diagnosed cases. Am J Med Genet. 53:108–140. 1994.
View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Jaruzelska J, Korcz A, Wojda A,
Jedrzejczak P, Bierla J, Surmacz T, Pawelczyk L, Page DC and
Kotecki M: Mosaicism for 45,X cell line may accentuate the severity
of spermatogenic defects in men with AZFc deletion. J Med Genet.
38:798–802. 2001. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Reshmi SC, Miller JL, Deplewski D, Close
C, Henderson LJ, Littlejohn E, Schwartz S and Waggoner DJ: Evidence
of a mechanism for isodicentric chromosome Y formation in a
45,X/46,X,idic(Y)(p11.31)/46,X,del(Y)(p11.31) mosaic karyotype. Eur
J Med Genet. 54:161–164. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Hernando C, Carrera M, Ribas I, Parear N,
Baraibar R, Egocue J and Fuster C: Prenatal and postnatal
characterization of Y chromosome structural anomalies by molecular
cytogenetic analysis. Prenat Diagn. 22:802–805. 2002. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Jakubowski L, Jeziorowska A, Constantinou
M and Kałuzewski B: Molecular analysis of Y chromosome long arm
structural instability in patients with gonadal dysfunction. Clin
Genet. 57:291–295. 2000. View Article : Google Scholar : PubMed/NCBI
|
|
11
|
DesGroseilliers M, Beaulieu Bergeron M,
Brochu P, Lemyre E and Lemieux N: Phenotypic variability in
isodicentric Y patients: Study of nine cases. Clin Genet.
70:145–150. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Lee J, Park JK, Kim DS, Lee HS, Choi SI
and Cho YG: Detailed analysis of isodicentric Y in a case with
azoospermia and 45,x/46,x,idic(Y) mosaicism. Ann Clin Lab Sci.
45:206–208. 2015.PubMed/NCBI
|
|
13
|
Becker RE and Akhavan A: Prophylactic
bilateral gonadectomy for ovotesticular disorder of sex development
in a patient with mosaic 45,X/46,X,idic(Y)q11.222 karyotype. Urol
Case Rep. 5:13–16. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Shinawi M, Cain MP, Vanderbrink BA,
Grignon DJ, Mensing D, Cooper ML, Bader P and Cheung SW: Mixed
gonadal dysgenesis in a child with isodicentric Y chromosome: Does
the relative proportion of the 45,X line really matter? Am J Med
Genet A. 152A:1832–1837. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
15
|
Jiang Y, Wang R, Li L, Xue L, Deng S and
Liu R: Molecular cytogenetic study of de novo mosaic karyotype
45,X/46,X,i(Yq)/46,X,idic(Yq) in an azoospermic male: Case report
and literature review. Mol Med Rep. 16:3433–3438. 2017. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Si YM, Dong Y, Wang W, Qi KY and Wang X:
Hypospadias in a male infant with an unusual mosaic 45,X/46,X,psu
idic(Y)(p11.32)/46,XY and haploinsufficiency of SHOX: A case
report. Mol Med Rep. 16:201–207. 2017. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Zhang L, Ren M, Song G, Zhang Y, Liu XX,
Zhang X and Wang J: Prenatal diagnosis of sex chromosomal
inversion, translocation and deletion. Mol Med Rep. 17:2811–2816.
2018.PubMed/NCBI
|
|
18
|
Ghionzoli M, Repele A, Sartiani L,
Costanzi G, Parenti A, Spinelli V, David AL, Garriboli M, Totonelli
G, Tian J, et al: Human amniotic fluid stem cell differentiation
along smooth muscle lineage. FASEB J. 27:4853–4865. 2013.
View Article : Google Scholar : PubMed/NCBI
|
|
19
|
Fishman MC and Schaffner AE: Carotid body
cell culture and selective growth of glomus cells. Am J Physiol.
246:C106–C113. 1984. View Article : Google Scholar : PubMed/NCBI
|
|
20
|
Patsalis PC, Skordis N, Sismani C,
Kousoulidou L, Koumbaris G, Eftychi C, Stavrides G, Ioulianos A,
Kitsiou-Tzeli S, Galla-Voumvouraki A, et al: Identification of high
frequency of Y chromosome deletions in patients with sex chromosome
mosaicism and correlation with the clinical phenotype and
Y-chromosome instability. Am J Med Genet A. 135:145–149. 2005.
View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Kotzot D, Dufke A, Tzschach A,
Baeckert-Sifeddine IT, Geppert M, Holland H, Florus JM and Froster
UG: Molecular breakpoint analysis and relevance of variable
mosaicism in a woman with short stature, primary amenorrhea,
unilateral gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotype.
Am J Med Genet. 112:51–55. 2002. View Article : Google Scholar : PubMed/NCBI
|
|
22
|
DesGroseilliers M, Fortin F, Lafrenière
AM, Brochu P, Lemyre E and Lemieux N: Dynamic increase of a 45,X
cell line in a patient with multicentric ring Y chromosomes.
Cytogenet Genome Res. 115:90–93. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
23
|
Telvi L, Lebbar A, Del Pino O, Barbet JP
and Chaussain JL: 45,X/46,XY mosaicism: Report of 27 cases.
Pediatrics. 104:304–308. 1999. View Article : Google Scholar : PubMed/NCBI
|
|
24
|
Lange J, Skaletsky H, van Daalen SK, Embry
SL, Korver CM, Brown LG, Oates RD, Silber S, Repping S and Page DC:
Isodicentric Y chromosomes and sex disorders as byproducts of
homologous recombination that maintains palindromes. Cell.
138:855–869. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
25
|
Lahn BT and Page DC: Functional coherence
of the human Y chromosome. Science. 278:675–680. 1997. View Article : Google Scholar : PubMed/NCBI
|
|
26
|
Skaletsky H, Kuroda-Kawaguchi T, Minx PJ,
Cordum HS, Hillier L, Brown LG, Repping S, Pyntikova T, Ali J,
Bieri T, et al: The male-specific region of the human Y chromosome
is a mosaic of discrete sequence classes. Nature. 423:825–837.
2003. View Article : Google Scholar : PubMed/NCBI
|
|
27
|
Delbridge ML, Lingenfelter PA, Disteche CM
and Graves JA: The candidate spermatogenesis gene RBMY has a
homologue on the human X chromosome. Nat Genet. 22:223–224. 1999.
View Article : Google Scholar : PubMed/NCBI
|
|
28
|
Tsui S, Dai T, Roettger S, Schempp W,
Salido EC and Yen PH: Identification of two novel proteins that
interact with germ-cell-specific RNA-binding proteins DAZ and
DAZL1. Genomics. 65:266–273. 2000. View Article : Google Scholar : PubMed/NCBI
|
